Fatigue in patients with spinal muscular atrophy type II and congenital myopathies: evaluation of the fatigue severity scale

Abstract

This study demonstrates that fatigue is characteristic in patients with CM, but not in patients with SMA II, in whom fatigue does not seem to impact daily life. While fatigue in CM and SMA II can be captured by FSS, omitting the first two items of the scale will improve its properties and content validity, along with comprehension of the scale itself.

Motor function performance in individuals with RYR1‐related myopathies

“…A similar study assessing community ambulation based on the 10‐m run would be helpful in a larger longitudinal study or individuals with RYR1 ‐RM, especially because these individuals often report muscle weakness and fatigue. Muscle weakness and fatigue are common impairments in congenital myopathies that influence quality of life, although research on quality of life in this population is extremely limited …”

Traducción y validación de la escala Individualized Neuromuscular Quality of Life para la población española: evaluación de la calidad de vida para personas afectas de enfermedades neuromusculares

“…Los valores obtenidos en este estudio con respecto a la fatiga en personas con enfermedades neuromusculares coinciden con los obtenidos en un estudio realizado por Werlauff et al [11] sobre la fatiga muscular en personas con atrofia muscular espinal de tipo II y con personas con miopatías congénitas, en el que se refiere que, en las personas con atrofia muscular espinal, la fatiga se presenta en algo más del 10%, pero en los afectados de miopatías congénitas se presenta en un 76%, y esta característica es un problema muy importante en sus relaciones con los demás, en la capacidad funcional, en la fuerza muscular y, como consecuencia, en su calidad de vida.…”

Living with illness and self‐transcendence: the lived experience of patients with spinal muscular atrophy

“…), fatigue severity in patients with SMA type II (Werlauff et al . ) and SMA survival patterns and functional status (Chung et al . ).…”

“…Existing international studies on SMA are mainly focused on the disease, genes (de Groot & de Witte 2005), therapies (de Groot & de Witte 2005, Wang et al 2007, Pountney 2009) and SMA's impact on patients, such as urinary tract infections in children with SMA (von Gontard et al 2001), fatigue severity in patients with SMA type II (Werlauff et al 2014) and SMA survival patterns and functional status (Chung et al 2004). The studies above address the physical and psychological effects and complications of SMA and provide concrete suggestions to improve current management of the disease.…”